Previous GeneCards Identifiers for DTNA Gene

Summaries for DTNA Gene

Entrez Gene Summary for DTNA Gene

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

dystrobrevin alpha,87kDa,cytoplasmic,dystrophin related phosphoprotein,found at the Torpedo electric organ post-synaptic membrane,involved in the formation and stability of the synapses,component of the dystrophin glycoprotein complex,with dystrophin and syntrophins

SOURCE GeneReport for Unigene cluster for DTNA Gene:

mRNA Expression by UniProt/SwissProt for DTNA Gene:

Tissue specificity:Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

UniProtKB/Swiss-Prot

Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. {ECO:0000269 PubMed:11238270}. Note=The disease is caused by mutations affecting the gene represented in this entry.